Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434427
rs121434427
1.000 1 161209912 missense variant G/A snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
0.800 1.000 1 2001 2001
dbSNP: rs121434428
rs121434428
1.000 1 161209915 missense variant C/A snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
0.800 1.000 1 2001 2001
dbSNP: rs121434429
rs121434429
1.000 1 161213673 missense variant T/C snv 7.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
0.800 1.000 1 2001 2001